Varaico: Literature-Extracted Genetic Variants

Gene:DNAI1
Variant:p.A169_K171del3

DNAI1

155 papers

RefSeq Summary

This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the d...

Pfam Domains

WD40aa 379–416UCSCWD domain, G-beta repeat
WD40aa 534–573UCSCWD domain, G-beta repeat

Gene Aliases

HGNC Name

dynein axonemal intermediate chain 1

HGNC Alias Symbols

DIC1; PCD; CILD1; oda6

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_012144.4
p.A169_K171del3
c.505_512del9
Surrounding Variants
1 paper
NM_012144.4
p.K171insFs
c.512_513insGC
1 paper
NM_012144.4
p.E176del1
c.526_528delGAA
1 paper
NM_012144.4
p.E174K
c.520G>A
1 paper
NM_012144.4
p.K181*
c.541A>T
1 paper
NM_012144.4
p.K181M
c.542A>T
1 paper
NM_012144.4
p.N190delFs
c.569_570delAC
1 paper
NM_012144.4
p.Q200L
c.599A>T
1 paper
NM_012144.4
p.Y202C
c.605A>G
1 paper
NM_012144.4
p.E154K
c.460G>A
1 paper
NM_012144.4
p.T155delFs
c.463delA
1 paper
NM_012144.4
p.S131Y
c.392C>A
5 papers
NM_012144.4
p.G130Splc
c.389-1G>C
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